المؤلفون: Tatton-Brown K; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK.; Medical Genetics, St George's University of London, London, UK., Hanks S; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Ruark E; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Zachariou A; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Del Vecchio Duarte S; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Ramsay E; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Snape K; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Murray A; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Perdeaux ER; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Seal S; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Loveday C; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Banka S; Genetic Medicine, University of Manchester, Manchester, UK., Clericuzio C; Pediatric Genetics, University of New Mexico, Albuquerque, USA., Flinter F; Clinical Genetics, Guy's and St Thomas' Foundation Trust, London, UK., Magee A; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland, UK., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland, UK., Patton M; Medical Genetics, St George's University of London, London, UK., Raith W; Division of Neonatology, Department of Paediatrics, Medical University, Graz, Austria., Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter Foundation NHS Trust, Exeter, UK., Splitt M; Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK., Strenger V; Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria., Taylor C; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Wheeler P; Division of Genetics, Nemours Children's Clinic, Orlando, USA., Temple IK; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK., Cole T; West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK., Douglas J; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Rahman N; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK.

مؤلفون مشاركون: Childhood Overgrowth Collaboration

المصدر: Oncotarget [Oncotarget] 2018 Nov 30; Vol. 9 (94), pp. 36719. Date of Electronic Publication: 2018 Nov 30 (Print Publication: 2018).

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: Impact Journals Country of Publication: United States NLM ID: 101532965 Publication Model: eCollection Cited Medium: Internet ISSN: 1949-2553 (Electronic) Linking ISSN: 19492553 NLM ISO Abbreviation: Oncotarget Subsets: PubMed not MEDLINE

المؤلفون: Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N

المصدر: Nature genetics [Nat Genet] 2016 Apr; Vol. 48 (4), pp. 473.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: PubMed not MEDLINE

المؤلفون: Mahamdallie SS; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Hanks S; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Karlin KL; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Zachariou A; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Perdeaux ER; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Ruark E; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Renwick A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Ramsay E; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Yost S; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Elliott A; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Birch J; Paediatric and Familial Cancer Research Group, University of Manchester, Manchester, UK., Capra M; Haematology Oncology-National Paediatric Centre, Our Lady's Children's Hospital, Dublin, Ireland., Gray J; Cancer Sciences Unit, University of Southampton, Southampton, UK., Hale J; Department of Paediatric and Adolescent Haematology and Oncology, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK., Kingston J; Department of Haematology and Oncology, Great Ormond Street Hospital, London, UK., Levitt G; Department of Haematology and Oncology, Great Ormond Street Hospital, London, UK., McLean T; Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Sheridan E; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK., Renwick A; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Seal S; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK., Stiller C; Public Health England, Oxford, UK., Sebire N; Department of Histopathology and Paediatric Laboratory Medicine, Great Ormond Street Hospital, London, UK., Westbrook TF; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Rahman N; Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.; Cancer Genetics Unit, Royal Marsden Hospital National Health Service (NHS) Foundation Trust, London, UK.

المصدر: Nature genetics [Nat Genet] 2015 Dec; Vol. 47 (12), pp. 1471-4. Date of Electronic Publication: 2015 Nov 09.

نوع المنشور: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation* , Genetic Predisposition to Disease*, Genetic Markers/*genetics , Kidney Neoplasms/*genetics , Mutation/*genetics , Repressor Proteins/*genetics , Wilms Tumor/*genetics, Case-Control Studies ; Humans

المؤلفون: Hanks S; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2]., Perdeaux ER; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2]., Seal S; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Ruark E; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Mahamdallie SS; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Murray A; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Ramsay E; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Del Vecchio Duarte S; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Zachariou A; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., de Souza B; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2] Cancer Genetics Unit, Royal Marsden Hospital NHS Foundation Trust, London SM2 5PT, UK., Warren-Perry M; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Elliott A; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Davidson A; Department of Paediatric Haematology-Oncology, Red Cross Children's Hospital, University of Cape Town, Cape Town 7700, South Africa., Price H; Department of Paediatrics, Great Western Hospital, Swindon SN3 6BB, UK., Stiller C; Childhood Cancer Research Group, University of Oxford, Oxford OX1 2JD, UK., Pritchard-Jones K; Molecular Haematology and Cancer Biology Unit, Institute of Child Health, University College London, London WC1E 6BT, UK., Rahman N; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2] Cancer Genetics Unit, Royal Marsden Hospital NHS Foundation Trust, London SM2 5PT, UK.

المصدر: Nature communications [Nat Commun] 2014 Aug 07; Vol. 5, pp. 4398. Date of Electronic Publication: 2014 Aug 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Germ-Line Mutation*, Nuclear Proteins/*genetics , Phosphoproteins/*genetics , Wilms Tumor/*genetics, Alternative Splicing ; Child, Preschool ; DNA Mutational Analysis ; Exome ; Exons ; Family Health ; Female ; Heterozygote ; Humans ; Infant ; Kidney/pathology ; Lymphocytes/cytology ; Lymphocytes/metabolism ; Male ; Pedigree ; Transcription Factors

المؤلفون: Turnbull C; Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK., Perdeaux ER, Pernet D, Naranjo A, Renwick A, Seal S, Munoz-Xicola RM, Hanks S, Slade I, Zachariou A, Warren-Perry M, Ruark E, Gerrard M, Hale J, Hewitt M, Kohler J, Lane S, Levitt G, Madi M, Morland B, Neefjes V, Nicholson J, Picton S, Pizer B, Ronghe M, Stevens M, Traunecker H, Stiller CA, Pritchard-Jones K, Dome J, Grundy P, Rahman N

المصدر: Nature genetics [Nat Genet] 2012 Apr 29; Vol. 44 (6), pp. 681-4. Date of Electronic Publication: 2012 Apr 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Kidney Neoplasms/*genetics , Wilms Tumor/*genetics, Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 2 ; Genome-Wide Association Study ; Humans ; Polymorphism, Single Nucleotide

المؤلفون: Tatton-Brown K; Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK., Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T, Douglas J, Rahman N

مؤلفون مشاركون: Childhood Overgrowth Collaboration

المصدر: Oncotarget [Oncotarget] 2011 Dec; Vol. 2 (12), pp. 1127-33.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Impact Journals Country of Publication: United States NLM ID: 101532965 Publication Model: Print Cited Medium: Internet ISSN: 1949-2553 (Electronic) Linking ISSN: 19492553 NLM ISO Abbreviation: Oncotarget Subsets: MEDLINE

مواضيع طبية MeSH: Germ-Line Mutation*, Abnormalities, Multiple/*genetics , Congenital Hypothyroidism/*genetics , Craniofacial Abnormalities/*genetics , DNA-Binding Proteins/*genetics , Hand Deformities, Congenital/*genetics , Transcription Factors/*genetics, Amino Acid Sequence ; Body Height ; Enhancer of Zeste Homolog 2 Protein ; Facies ; Female ; Growth Disorders/genetics ; Histone Methyltransferases ; Histone-Lysine N-Methyltransferase/genetics ; Histones/genetics ; Humans ; Male ; Polycomb Repressive Complex 2 ; Sequence Analysis, DNA

SCR Disease Name: Weaver syndrome

المؤلفون: Redrup L; Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge CB22 3AT, UK., Branco MR, Perdeaux ER, Krueger C, Lewis A, Santos F, Nagano T, Cobb BS, Fraser P, Reik W

المصدر: Development (Cambridge, England) [Development] 2009 Feb; Vol. 136 (4), pp. 525-30. Date of Electronic Publication: 2009 Jan 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Company Of Biologists Limited Country of Publication: England NLM ID: 8701744 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0950-1991 (Print) Linking ISSN: 09501991 NLM ISO Abbreviation: Development Subsets: MEDLINE

مواضيع طبية MeSH: Cell Lineage* , Gene Silencing*, Cell Nucleus/*genetics , RNA, Untranslated/*metabolism, Animals ; Base Sequence ; Genomic Imprinting ; Mice ; Molecular Sequence Data ; RNA Interference ; RNA Stability ; RNA, Long Noncoding ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; RNA, Untranslated/genetics